Qualitative Perspectives on Stress and Coping from Parents of Children with Marshall-Smith Syndrome Open Access

Taylor, Mackenzie (Spring 2020)

Permanent URL: https://etd.library.emory.edu/concern/etds/g732db141?locale=en


Up to 30 million people living in the United States are affected by a rare disease. Though the specific diseases are rare, the broader impacts of rare disease affect up to 10 percent of the United States population. Marshall-Smith Syndrome (MSS) is one rare disease that is infrequently described in the literature. The people with MSS require lifelong care which often makes their parents long-term caregivers. Previous research has demonstrated some of the challenges of caregiving for children with medically complex and rare diseases, but no research has specifically focused on stress and coping for parents of children with MSS. The purpose of this study was to understand more about the experiences of parents of children with MSS, the significance of being a part of a rare disease community, and major stressors and coping strategies. Guided by the Transactional Model of Stress and Coping (TMSC), qualitative data were collected from nine parents of children with MSS (from eight families) through individual semi-structured interviews in August and September of 2019. The parents were recruited from a Facebook support group for MSS families and the interviews focused on the usefulness of online social support for this population. Inductive and deductive codes were used for thematic analysis of the data and three key themes emerged: 1) Fear of the unknown, 2) Social connection, and 3) Information gathering. These themes illuminated experiences of stress and coping for parents of children with MSS and the ways that online social support impacts the rare disease community. The findings fit within the previous literature on rare diseases and inform the importance of disease-specific social support and care. Understand more about the experiences of disease specific communities can inform practice of genetic counseling and online interventions for families with rare disease. 

Table of Contents

Chapter 1: Introduction 1

Background 1

Problem 3

Purpose 3

Research Questions 4

Rationale 4

Theoretical Framework 4

Chapter 2: Literature Review 6

Significance of Rare Disease 6

History of Marshall-Smith Syndrome 7

Genetics information on Marshall-Smith Syndrome 10

Development and Behavior of Marshall-Smith Syndrome 11

Information of Care for Individuals with Marshall-Smith Syndrome 12

Parent Caregivers of Children with Chronic Disease 13

Caring for a Child with a Rare Disease 14

Family-Engaged Research and Care 16

Online Social Support 17

The Transactional Model of Stress and Coping 19

Summary of the Current Problem and Study Relevance 23

Chapter 3: Methods 24

Project Conceptualization 24

Reflexivity 24

Research Design 25

Population 25

Stakeholder Engagement 25

Eligibility 26

Recruitment 26

Instrument 28

Data Collection 28

Data Management 29

Data Analysis 30

Chapter 4: Manuscript 32

Abstract 33

Keywords 33

Introduction 34

Theoretical Framework 36

Methods 37

Stakeholder Engagement 38

Recruitment and Eligibility 38

Instrument 39

Data Collection and Management 39

Data Analysis 40

Results 42

Theme 1: Fear of the Unknown 42

Theme 2: Information Gathering 45

Theme 3: Social Connections 48

Relationship Between Stress and Coping 50

Assessment of Model Fit in the Data 52

Discussion 53

Implications for Theory and Practice 54

Strengths and Limitations 55

Future Directions 56

Conclusions 57

References 58

Tables 63

Figures 64

Chapter 5: Public Health Implications 65

Implications for Theory 66

Implications for Practice 67

Strengths and Limitations 68

Future Directions 69

Conclusions 70

References 71

Appendix A: Interview Guide 76

Appendix B: Codebook 79

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